nsv6633522
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:119,119
- Publication(s):Zarrei et al. 2023
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 612 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 660 SVs from 76 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6633522 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 39,021,038 | 39,140,156 |
| nsv6633522 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 39,021,035 | 39,140,153 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18316717 | deletion | OSC8352 | SNP array | Probe signal intensity | 9 |
| nssv18316810 | duplication | OSC8257 | SNP array | Probe signal intensity | nssv18316552, nssv18316179 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18316717 | Remapped | Perfect | NC_000009.12:g.(?_ 39021038)_(3914015 6_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 39,021,038 | 39,140,156 |
| nssv18316810 | Remapped | Perfect | NC_000009.12:g.(?_ 39021038)_(3914015 6_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 39,021,038 | 39,140,156 |
| nssv18316717 | Submitted genomic | NC_000009.11:g.(?_ 39021035)_(3914015 3_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 39,021,035 | 39,140,153 | ||
| nssv18316810 | Submitted genomic | NC_000009.11:g.(?_ 39021035)_(3914015 3_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 39,021,035 | 39,140,153 |